Harlequin Ichthyosis

Overview

Harlequin ichthyosis (say: har-leh-kwin ik-thee-oh-sis) is a very rare genetic skin condition. Babies are born with thick, plate-like skin that has deep cracks between the plates. The skin barrier does not work well, so babies need specialist care right away. It is not contagious.

No. Harlequin ichthyosis is extremely rare.

It affects babies at birth. It can affect any sex and any ethnic group. It happens when both parents carry a changed gene and pass it on to the baby.

Symptoms

Common symptoms

• Thick, armor-like plates of skin at birth
• Deep red cracks between the skin plates
• Skin that is very tight and shiny
• Eyelids turned outward (ectropion)
• Lips turned outward (eclabium)
• Flattened nose and ears
• Trouble moving arms and legs because the skin is tight
• Problems feeding, breathing, or keeping warm
• High risk of infection and dehydration because the skin barrier is broken

Symptoms in children

• After the newborn period, the thick plates may peel and the skin becomes red, scaly, and very dry
• Ongoing itching and discomfort
• Skin infections are more likely
• Overheating or trouble keeping cool
• Slow growth or feeding problems
• Eye problems such as dry eyes or eyelid issues
• Tight joints or limited movement
• Hair and nail problems

Symptoms in older adults

• Harlequin ichthyosis is present from birth, so adults with the condition have had it all their lives
• Long-term red, scaly, dry skin
• Ongoing need for daily moisturizing and skin checks
• Higher risk of skin infection
• Eye and ear care needs
• Heat intolerance and need to avoid overheating
• Possible tight joints or movement limits
• Emotional and social effects from visible skin differences

Causes

Main causes

• Harlequin ichthyosis is caused by changes in a gene called ABCA12. This gene helps make a protein needed for normal skin barrier.
• It is inherited in an autosomal recessive pattern. This means a baby must inherit two changed copies of the gene, one from each parent, to have the condition.
• Parents who each carry one changed copy are usually healthy and may not know they carry it.

Risk factors

• Both parents carry a changed copy of the ABCA12 gene
• A family history of harlequin ichthyosis or other severe ichthyosis
• Parents who are closely related may have a higher chance of sharing the same changed gene
• A previous child with harlequin ichthyosis

When to see a doctor

See a doctor urgently if:

• Signs of skin infection, such as spreading redness, warmth, pus, or fever
• Poor feeding, vomiting, or fewer wet nappies
• Breathing problems or unusual sleepiness
• Eye pain, eye redness, or thick eye discharge
• Skin cracks that are bleeding or getting worse
• Very high or very low body temperature

Book a routine appointment if:

• Regular skin check-ups with a skin specialist
• Growth, feeding, and development reviews
• Eye and ear checks
• Dental checks
• Genetic counseling for the family
• School or care planning if your child needs extra support

Diagnosis

Doctors usually recognize harlequin ichthyosis at birth from the baby's skin appearance. Genetic testing can confirm the diagnosis. Sometimes signs are seen before birth on an ultrasound.

Tests that may be done

• Physical exam of the baby's skin and body
• Genetic testing, usually from a blood or saliva sample, to look for changes in the ABCA12 gene
• Prenatal ultrasound if there is a known risk or unusual findings
• Prenatal genetic testing, such as amniocentesis or chorionic villus sampling, for families with a known risk
• Blood tests to check hydration, salt balance, and infection
• Eye and ear exams
• X-rays or other imaging if joint or breathing problems are suspected

What to expect at your appointment

Your baby will likely need care in a newborn intensive care unit (NICU). The team will keep your baby warm, hydrated, and protected from infection. They will also help with feeding and breathing. You may meet skin, eye, and genetic specialists. Genetic counseling can help you understand what caused the condition and what it means for future pregnancies.

Treatment

There is no cure for harlequin ichthyosis. Treatment focuses on protecting the skin, preventing infection, and supporting feeding, breathing, and growth. Care starts at birth and continues for life.

Self-care at home

• Follow the skin care plan from your child's specialist team
• Use gentle, fragrance-free moisturizers as advised
• Give lukewarm baths and pat the skin dry gently
• Avoid harsh soaps, scrubbing, and very hot rooms
• Check the skin every day for cracks, redness, swelling, or pus
• Keep the room comfortably cool and use a humidifier if advised
• Protect the skin from sunburn and extreme heat
• Keep follow-up appointments for skin, eye, ear, and growth checks

Medical treatments

Newborns usually need intensive care with a humidified incubator, fluids, temperature control, and nutrition support. A specialist skin team will guide gentle skin cleaning and heavy moisturizing. Medicines may be used to treat or prevent infection, help with feeding, or support skin turnover. These are chosen by the specialist team. Other care may include eye drops or ointments, physiotherapy, and help from dietitians and pain specialists. Treatment is tailored to each person.

When is surgery considered?

Surgery is not a cure. Sometimes surgery may be considered for very tight joints or eyelid problems that affect vision or movement. This is decided with a specialist team after other care has been tried.

Living with this condition

Daily life centers on skin care. Many people need long baths or showers, gentle cleaning, and heavy moisturizing several times a day. Skin checks help catch infections early. Planning for cool environments, school support, and regular specialist visits can make daily life easier.

Lifestyle tips

• Keep skin care simple and consistent
• Wear loose, soft clothing to reduce rubbing
• Avoid overheating and stay cool in hot weather
• Use fragrance-free products and avoid harsh chemicals
• Keep up with eye, ear, and dental care
• Plan school or work adjustments if needed
• Ask about physiotherapy for tight joints

Diet and exercise

A balanced diet and enough fluids support skin repair and growth. Ask a dietitian for advice if feeding or growth is a concern. Exercise is encouraged as tolerated, but it is important to stay cool and avoid overheating. Swimming in a cool pool may help some people, but check with the skin team first.

Mental health and emotional wellbeing

Living with a visible skin condition can affect confidence, mood, and social life. Children and adults may face staring, questions, or bullying. Talking about these feelings with a counselor or support group can help. If you or your child have thoughts of self-harm or suicide, contact your local crisis service or emergency services right away.

Prevention

Harlequin ichthyosis cannot be prevented after conception. Genetic counseling can help families understand the chance of passing it on and discuss prenatal testing options.

Vaccines

Routine vaccines are usually recommended. Ask your specialist team because skin care and infection risk may need extra planning.

Screening programmes

There is no general screening test for everyone. For a pregnancy at higher risk, doctors may offer ultrasound and genetic testing.

Complications

If left untreated

• Severe dehydration
• Dangerous overheating or low body temperature
• Skin infection that can spread to the blood
• Breathing problems
• Eye damage from dry eyes or eyelid problems
• Poor feeding and slow growth
• Tight joints that limit movement
• Long-term red, scaly, dry skin

Long-term outlook

Harlequin ichthyosis is a serious condition, but modern specialist care has improved survival. Many children now live into adulthood. The outlook varies from person to person. Early care, good skin care, and regular specialist follow-up can help reduce problems and support a full life.

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